Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis

1995 ◽  
Vol 1 (4) ◽  
pp. 209-218 ◽  
Author(s):  
lan Findlay ◽  
Pierre Ray ◽  
Phil Quirke ◽  
Anthony Rutherford ◽  
Richard Lilford
Keyword(s):  
Cystic Fibrosis ◽  
Single Cells ◽  
Preimplantation Diagnosis ◽  
Drop Out ◽  
Preferential Amplification ◽  
Allelic Drop Out

scholarly journals Preimplantation diagnosis by whole-genome amplification, PCR amplification, and solid-phase minisequencing of blastomere DNA

1996 ◽  
Vol 42 (9) ◽  
pp. 1382-1390 ◽  
Author(s):  
T Paunio ◽  
I Reima ◽  
A C Syvänen
Keyword(s):  
Whole Genome Amplification ◽  
Solid Phase ◽  
Single Cells ◽  
Point Mutations ◽  
Pcr Amplification ◽  
Preimplantation Diagnosis ◽  
Whole Genome ◽  
Genome Amplification ◽  
Specific Pcr ◽  
Preferential Amplification

Abstract We have developed a new method for preimplantation diagnosis of inherited diseases. Our procedure for the identification of point mutations in single cells combines whole-genome amplification using 15-mer random primers (primer extension preamplification, PEP) with a single locus-specific PCR amplification, followed by detection of the mutation by solid-phase minisequencing. The procedure was evaluated by detecting three disease-causing mutations and seven polymorphic nucleotides located on different human chromosomes from single granuloma and blastomere cells. The correct genotype of the cell was identified at 96% of the nucleotide positions analyzed, showing that a representative part of the genome is amplified during PEP. We estimate that PEP yielded at least 1000 copies of the genome. The quantitative nature of the solid-phase minisequencing method allowed us to notice that preferential amplification of one allele occurs at heterozygous loci during PEP, which is a potential problem in preimplantation diagnosis.

Validation of a DNA mixture statistics tool incorporating allelic drop-out and drop-in

2012 ◽  
Vol 6 (6) ◽  
pp. 749-761 ◽  
Author(s):  
Adele A. Mitchell ◽  
Jeannie Tamariz ◽  
Kathleen O’Connell ◽  
Nubia Ducasse ◽  
Zoran Budimlija ◽  
...  
Keyword(s):  
Drop Out ◽  
Dna Mixture ◽  
Allelic Drop Out

scholarly journals Towards preimplantation diagnosis of cystic fibrosis using microarrays

2004 ◽  
Vol 8 (1) ◽  
pp. 107-114 ◽  
Author(s):  
CS Salvado ◽  
AO Trounson ◽  
DS Cram
Keyword(s):  
Cystic Fibrosis ◽  
Preimplantation Diagnosis

Genetic analysis of DNA from single human oocytes: A model for preimplantation diagnosis of cystic fibrosis

1990 ◽  
Vol 31 (2) ◽  
pp. 201-201
Author(s):  
C Coutelle ◽  
C Williams ◽  
A Handyside ◽  
K Hardy ◽  
R Winston ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Analysis ◽  
Preimplantation Diagnosis ◽  
Human Oocytes

scholarly journals RMNE probability of forensic DNA profiles with allelic drop-out

2009 ◽  
Vol 2 (1) ◽  
pp. 462-463 ◽  
Author(s):  
F. Van Nieuwerburgh ◽  
E. Goetghebeur ◽  
M. Vandewoestyne ◽  
D. Deforce
Keyword(s):  
Drop Out ◽  
Forensic Dna ◽  
Dna Profiles ◽  
Allelic Drop Out
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